NP_001032275.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Related Accession #
Molecular Weight
50,130 Da
NCBI Official Full Name
solute carrier family 52, riboflavin transporter, member 3
NCBI Official Synonym Full Names
solute carrier family 52, riboflavin transporter, member 3
NCBI Protein Information
solute carrier family 52, riboflavin transporter, member 3
UniProt Protein Name
Solute carrier family 52, riboflavin transporter, member 3
UniProt Synonym Protein Names
Riboflavin transporter 2; rRFT2
UniProt Synonym Gene Names
UniProt Entry Name
S52A3_RAT
UniProt Comments for SLC52A3
SLC52A3: Riboflavin transporter. Riboflavin transport is Na(+)- independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), and to a lesser extent by amiloride. Defects in SLC52A3 are the cause of Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1). A rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia, and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise. Defects in SLC52A3 are the cause of Fazio-Londe disease (FALOND). A rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. Belongs to the riboflavin transporter family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, multi-pass; Membrane protein, integral
Cellular Component: integral to plasma membrane
Molecular Function: riboflavin transporter activity
Biological Process: sensory perception of sound; riboflavin transport
Research Articles on SLC52A3
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with SLC52A3 sirna
Pathways associated with SLC52A3 sirna
Diseases associated with SLC52A3 sirna
Organs/Tissues associated with SLC52A3 sirna
|